Canonical Allele Identifier: CA4230427

Gene: GLI3

Linked Data

• dbSNP Id: rs760174184
• ExAC: 7:42005498 C / T
• gnomAD v2: 7-42005498-C-T
• gnomAD v4: 7-41965900-C-T
• COSMIC: COSM1089652
• MyVariant Identifiers: chr7:g.42005498C>T (hg19) ; chr7:g.41965900C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41965900C>T , CM000669.2:g.41965900C>T	GRCh38
NC_000007.13:g.42005498C>T , CM000669.1:g.42005498C>T	GRCh37
NC_000007.12:g.41972023C>T	NCBI36
NG_008434.1:g.276121G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.3173G>A MANE Select	ENSP00000379258.3:p.Arg1058Gln
ENST00000677288.1:c.2999G>A	ENSP00000503986.1:p.Arg1000Gln
ENST00000677605.1:c.3173G>A	ENSP00000503743.1:p.Arg1058Gln
ENST00000678429.1:c.3173G>A	ENSP00000502957.1:p.Arg1058Gln
ENST00000395925.7:c.3173G>A	ENSP00000379258.3:p.Arg1058Gln
ENST00000479210.1:n.3150G>A
NM_000168.5:c.3173G>A	NP_000159.3:p.Arg1058Gln
XM_005249703.1:c.3173G>A	XP_005249760.1:p.Arg1058Gln
XM_005249704.2:c.3173G>A	XP_005249761.1:p.Arg1058Gln
XM_011515272.1:c.3173G>A	XP_011513574.1:p.Arg1058Gln
XM_011515273.1:c.3173G>A	XP_011513575.1:p.Arg1058Gln
XM_011515274.1:c.2996G>A	XP_011513576.1:p.Arg999Gln
XM_011515274.2:c.2996G>A	XP_011513576.1:p.Arg999Gln
XM_017011997.1:c.3170G>A	XP_016867486.1:p.Arg1057Gln
NM_000168.6:c.3173G>A MANE Select	NP_000159.3:p.Arg1058Gln